Incidental Mutation 'PIT4585001:Doc2g'
ID 556636
Institutional Source Beutler Lab
Gene Symbol Doc2g
Ensembl Gene ENSMUSG00000024871
Gene Name double C2, gamma
Synonyms D830013O18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # PIT4585001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 4053385-4057005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4056630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 339 (T339A)
Ref Sequence ENSEMBL: ENSMUSP00000025806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025802] [ENSMUST00000025806] [ENSMUST00000042497] [ENSMUST00000122924] [ENSMUST00000128787] [ENSMUST00000129706] [ENSMUST00000133474] [ENSMUST00000134479] [ENSMUST00000136921] [ENSMUST00000155405]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025802
SMART Domains Protein: ENSMUSP00000025802
Gene: ENSMUSG00000110949

DomainStartEndE-ValueType
Pfam:NUDIX 26 160 2.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025806
AA Change: T339A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025806
Gene: ENSMUSG00000024871
AA Change: T339A

DomainStartEndE-ValueType
C2 99 206 1.14e-10 SMART
low complexity region 231 243 N/A INTRINSIC
C2 259 373 5.14e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042497
SMART Domains Protein: ENSMUSP00000042967
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 80 252 2.4e-52 PFAM
Pfam:SLBB 275 327 5.1e-10 PFAM
NADH_4Fe-4S 364 409 1.05e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122924
SMART Domains Protein: ENSMUSP00000122531
Gene: ENSMUSG00000110949

DomainStartEndE-ValueType
Pfam:NUDIX 19 117 3.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128787
SMART Domains Protein: ENSMUSP00000123069
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 71 243 1.6e-52 PFAM
Pfam:SLBB 266 318 8.6e-10 PFAM
NADH_4Fe-4S 355 400 1.05e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129706
SMART Domains Protein: ENSMUSP00000115653
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 80 115 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133474
SMART Domains Protein: ENSMUSP00000120223
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 146 3.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134479
SMART Domains Protein: ENSMUSP00000121915
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 173 3.6e-53 PFAM
Pfam:SLBB 196 248 5.2e-11 PFAM
NADH_4Fe-4S 285 330 1.05e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136921
SMART Domains Protein: ENSMUSP00000123680
Gene: ENSMUSG00000037916

DomainStartEndE-ValueType
Pfam:Complex1_51K 1 114 6.7e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155405
SMART Domains Protein: ENSMUSP00000119218
Gene: ENSMUSG00000024869

DomainStartEndE-ValueType
Pfam:NUDIX 29 159 8.1e-15 PFAM
Coding Region Coverage
  • 1x: 93.6%
  • 3x: 91.2%
  • 10x: 86.5%
  • 20x: 76.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aurka T C 2: 172,199,117 (GRCm39) M318V probably benign Het
Cacna2d1 T A 5: 16,531,342 (GRCm39) D560E probably damaging Het
Ccdc148 T A 2: 58,872,988 (GRCm39) T202S probably benign Het
Cdc42bpb T C 12: 111,271,412 (GRCm39) D1149G probably damaging Het
Clasp1 T A 1: 118,390,285 (GRCm39) N156K probably damaging Het
Cox18 G A 5: 90,365,434 (GRCm39) T255I possibly damaging Het
Cse1l A G 2: 166,783,394 (GRCm39) T783A probably damaging Het
Dnajc16 T C 4: 141,491,996 (GRCm39) Y609C probably damaging Het
Eif5a T C 11: 69,808,896 (GRCm39) probably benign Het
Epha3 A G 16: 63,386,940 (GRCm39) probably null Het
Esco1 A T 18: 10,594,355 (GRCm39) C310* probably null Het
Fam222a A G 5: 114,749,101 (GRCm39) Y99C probably damaging Het
Fzd2 T C 11: 102,496,573 (GRCm39) L339P probably damaging Het
Gfral A T 9: 76,104,576 (GRCm39) N145K probably damaging Het
Gga1 T A 15: 78,777,990 (GRCm39) N618K probably benign Het
Gpatch3 T A 4: 133,310,397 (GRCm39) H447Q probably damaging Het
Gpn1 A T 5: 31,666,747 (GRCm39) R346* probably null Het
Gsg1 T C 6: 135,214,558 (GRCm39) E317G probably benign Het
Gsk3b A G 16: 38,004,816 (GRCm39) N129S probably damaging Het
Hmg20b G T 10: 81,184,789 (GRCm39) D94E possibly damaging Het
Kash5 C T 7: 44,849,695 (GRCm39) G76D probably benign Het
Klhdc9 T A 1: 171,187,386 (GRCm39) H204L possibly damaging Het
Klhl24 A G 16: 19,925,638 (GRCm39) I55M probably benign Het
Kmt2c T C 5: 25,520,104 (GRCm39) D2002G probably benign Het
Lama4 A G 10: 38,950,742 (GRCm39) N1015S probably damaging Het
Lpp T C 16: 24,580,697 (GRCm39) C263R probably benign Het
Lrp1b T C 2: 41,159,216 (GRCm39) I1689V Het
Mipep C A 14: 61,022,284 (GRCm39) Q50K probably benign Het
Mx1 T C 16: 97,257,454 (GRCm39) D101G probably benign Het
Nabp2 C G 10: 128,244,676 (GRCm39) E37Q possibly damaging Het
Nme6 A G 9: 109,671,104 (GRCm39) I115V possibly damaging Het
Nup93 A T 8: 94,970,355 (GRCm39) T85S probably benign Het
Oit3 T A 10: 59,266,835 (GRCm39) I224F possibly damaging Het
Parp14 T C 16: 35,678,975 (GRCm39) K331R probably benign Het
Pls1 T A 9: 95,643,443 (GRCm39) T519S probably benign Het
Rcn3 A G 7: 44,736,118 (GRCm39) F197L probably benign Het
Rnf213 C T 11: 119,349,218 (GRCm39) T3773I Het
Rprd1b A T 2: 157,889,877 (GRCm39) I153L probably benign Het
Scel A G 14: 103,829,804 (GRCm39) D462G possibly damaging Het
Sh3bp1 C T 15: 78,794,276 (GRCm39) S548L possibly damaging Het
Sim1 T A 10: 50,860,284 (GRCm39) Y715* probably null Het
Slc18a2 A T 19: 59,282,293 (GRCm39) Q500L possibly damaging Het
Slc5a8 T G 10: 88,722,365 (GRCm39) M66R probably damaging Het
Slco1a6 T C 6: 142,055,246 (GRCm39) T233A probably damaging Het
Smu1 T C 4: 40,739,623 (GRCm39) T396A probably benign Het
Tas2r104 T C 6: 131,662,521 (GRCm39) T63A possibly damaging Het
Tasor2 G A 13: 3,624,979 (GRCm39) A1657V possibly damaging Het
Top2a C T 11: 98,892,199 (GRCm39) A1088T probably benign Het
Ucp1 T C 8: 84,020,577 (GRCm39) F129S probably damaging Het
Unc13b T A 4: 43,091,298 (GRCm39) D41E probably benign Het
Usp10 T G 8: 120,681,631 (GRCm39) V696G probably benign Het
Xylt2 C T 11: 94,557,066 (GRCm39) V745M probably damaging Het
Zbtb49 A T 5: 38,373,820 (GRCm39) N41K probably damaging Het
Zfp109 T A 7: 23,928,779 (GRCm39) D218V probably benign Het
Zfp420 G A 7: 29,575,430 (GRCm39) R550Q probably benign Het
Other mutations in Doc2g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Doc2g APN 19 4,056,577 (GRCm39) missense probably damaging 1.00
IGL02952:Doc2g APN 19 4,056,719 (GRCm39) missense possibly damaging 0.83
R0194:Doc2g UTSW 19 4,053,656 (GRCm39) missense probably benign 0.00
R3813:Doc2g UTSW 19 4,054,466 (GRCm39) splice site probably null
R4508:Doc2g UTSW 19 4,054,036 (GRCm39) splice site probably benign
R7023:Doc2g UTSW 19 4,054,778 (GRCm39) missense probably benign 0.00
R8987:Doc2g UTSW 19 4,054,511 (GRCm39) critical splice acceptor site probably null
R9664:Doc2g UTSW 19 4,054,390 (GRCm39) missense probably damaging 1.00
R9759:Doc2g UTSW 19 4,056,571 (GRCm39) missense probably benign
Z1177:Doc2g UTSW 19 4,054,105 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCAATGAGGTGGGTCATGGC -3'
(R):5'- TGTGCTGACTAGTCACCAAG -3'

Sequencing Primer
(F):5'- GGGTCATGGCTGGGAGAC -3'
(R):5'- CTGACTAGTCACCAAGTTGGG -3'
Posted On 2019-06-07